ClinVar Miner

List of variants studied for Finnish congenital nephrotic syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

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Total variants: 7
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NM_004646.3(NPHS1):c.2869G>A (p.Val957Met) rs114849139
NM_004646.3(NPHS1):c.2902G>T (p.Gly968Cys) rs772979927
NM_004646.3(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.3(NPHS1):c.41T>C (p.Leu14Pro) rs1060499706
NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys) rs386833961
NM_024753.5(TTC21B):c.3761A>G (p.Tyr1254Cys) rs1553505260
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594

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